• Conditions InDepth: Sickle Cell Disease

    Sickle cell disease is an inherited blood disorder. Normally, red blood cells are disc-shaped and flexible. In sickle cell disease, however, hemoglobin (the chemical within red blood cells that carries oxygen around the body) is abnormal. This causes red blood cells to collapse into a crescent or sickle shape. It also causes the red blood cells to be abnormally stiff and fragile. These elongated, stiff red blood cells have a tendency to clump together and clog up small blood vessels throughout the body. When blood vessels are blocked by sickle-shaped red blood cells, parts of the body are deprived of oxygen. This can cause severe pain and damage to the organs and tissues that are deprived of oxygen. Furthermore, abnormal red blood cells are destroyed at an unusually high rate, causing a shortage of red blood cells (called anemia).
    Red Blood Cells: Normal and Sickled
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    Sickle cell disease is a genetic disorder. If you receive two defective genes (one from each of your parents), you will have sickle cell disease. If you only have one defective gene, you are said to have sickle cell trait, but not sickle cell disease. Although you won’t usually have any symptoms, you can pass this gene on to your children.
    Sickle cell disease occurs in eight out of every 100,000 people. It’s most common in people of African and Hispanic descent. In the United States, one out of every 500 African-Americans and one out of every 1,000 to 1,400 Hispanic Americans have sickle cell disease. A total of about 72,000 Americans have this condition.
    What are the risk factors for sickle cell disease?What are the symptoms of sickle cell disease?How is sickle cell disease diagnosed?What are the treatments for sickle cell disease?Are there screening tests for sickle cell disease?How can I reduce my risk of sickle cell disease?What questions should I ask my doctor?What is it like to live with sickle cell disease?Where can I get more information about sickle cell disease?

    References

    Cecil Textbook of Medicine. 22nd ed. W.B. Saunders Company; 2003.

    National Heart, Lung, and Blood Institute website. Available at: http://www.nhlbi.nih.gov/ .

    Sickle Cell Disease Association of America website. Available at: http://www.sicklecelldisease.org/ .

    Weiner CM. Harrison’s Principles of Internal Medicine . 17th ed. New York, NY: McGraw – Hill; 2008.

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